Canonical Allele Identifier: CA257168
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 14193
dbSNP Id: rs121913604

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161307314C>G , CM000663.2:g.161307314C>G GRCh38
NC_000001.10:g.161277104C>G , CM000663.1:g.161277104C>G GRCh37
NC_000001.9:g.159543728C>G NCBI36
NG_008055.1:g.7659G>C , LRG_256:g.7659G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000526189.3:c.178G>C ENSP00000488104.2:p.Asp60His
ENST00000533357.5:c.178G>C MANE Select ENSP00000432943.1:p.Asp60His
ENST00000672287.2:c.-411G>C ENSP00000499818.2:n.-411G>C
ENST00000672602.2:c.178G>C ENSP00000500814.2:p.Asp60His
ENST00000674861.1:n.241G>C
ENST00000463290.5:c.178G>C ENSP00000431538.1:p.Asp60His
ENST00000491222.5:c.-411G>C ENSP00000431441.1:n.-411G>C
ENST00000533357.4:c.178G>C ENSP00000432943.1:p.Asp60His
NM_000530.6:c.178G>C , LRG_256t1:c.178G>C NP_000521.2:p.Asp60His
NM_000530.7:c.178G>C NP_000521.2:p.Asp60His
NM_001315491.1:c.178G>C NP_001302420.1:p.Asp60His
XM_017001321.2:c.208G>C XP_016856810.1:p.Asp70His
NM_000530.8:c.178G>C MANE Select NP_000521.2:p.Asp60His
NM_001315491.2:c.178G>C NP_001302420.1:p.Asp60His